{"Name":"Hydroa vacciniforme, familial","DiseaseID__c":"GARD:0010079","id":10079,"encodedName":"hydroa-vacciniforme-familial","IsDeleted":false,"Disease_Name_Full__c":"Hydroa vacciniforme, familial","Xref_IDs__c":"C1863533; C536077; MEDGEN:355003; MONDO:0011371; OMIM:603794","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":1,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0011371","Disease_Description__c":"An instance of hydroa vacciniforme that is caused by an inherited modification of the individual's genome.","GARD_Name__c":"Hydroa vacciniforme, familial","GARD_Synonym__c":"hereditary hydroa vacciniforme","Curated_Disease_Description_Source__c":"MEDGEN:C1863533","Curated_Disease_Description__c":"Hydroa vacciniforme (HV) is a rare photodermatosis characterized by acute vesiculation and crusting and scarring following sun exposure (Gupta et al., 1999).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011371","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Hydroa vacciniforme (HV) is a rare photodermatosis characterized by acute vesiculation and crusting and scarring following sun exposure (Gupta et al., 1999).","Curated_Disease_Description_Source__c":"MEDGEN:C1863533","GARD_Synonym__c":"hereditary hydroa vacciniforme","Name":"Hydroa vacciniforme, familial","estimateUsa":""}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536077","Source__c":"MONDO:0011371","Xref__c":"C536077"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=355003","Source__c":"C1863533","Xref__c":"MEDGEN:355003"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1863533","Source__c":"C1863533","Xref__c":"C1863533"},{"URL__c":"https://www.omim.org/entry/603794","Source__c":"C1863533; MONDO:0011371","Xref__c":"OMIM:603794"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011371","Source__c":"GARD:0010079","Xref__c":"MONDO:0011371"}],"tags":{},"synonyms":["hereditary hydroa vacciniforme"]}